ClinVar Miner

Submissions for variant NM_000391.4(TPP1):c.229G>C (p.Gly77Arg) (rs121908195)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189757 SCV000243405 pathogenic not provided 2012-04-12 criteria provided, single submitter clinical testing p.Gly77Arg (GGA>CGA): c.229 G>C in exon 3 in the TPP1 gene (NM_000391.3) has been reported previously in association with late-infantile neuronal ceroid lipofuscinosis (LINCL) (Sleat et al., 1999). The Gly77Arg mutation alters a highly conserved position in the pro-segment of the TPP1 protein, and in vitro functional studies indicate that this mutation impairs protein folding and significantly reduces TPP1 enzyme activity (Walus et al., 2010). We interpret G77R as a disease-causing mutation. The variant is found in EPILEPSY panel(s).
Counsyl RCV000673684 SCV000798914 likely pathogenic Ceroid lipofuscinosis neuronal 2 2018-03-29 criteria provided, single submitter clinical testing

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